(Q30389807)

12 August 2017

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity (English)

1 reference

severe combined immunodeficiency

12 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Pavel Lobachevsky

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Lisa Woodbine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Sharon Choo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Chris Fraser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Jai Smith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Nickala Best

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Laura Munforte

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Elena Korneeva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Roger F Martin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Penny A Jeggo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Olga A Martin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

language of work or name

1 reference

4 July 2015

1 reference

The Journal of Molecular Diagnostics

12 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

page(s)

560-575

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

14 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

The clinical impact of deficiency in DNA non-homologous end-joining

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Gamma histone 2AX (γ-H2AX)as a predictive tool in radiation oncology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

H2AX a promising biomarker for lung cancer: a review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Brief report: a human induced pluripotent stem cell model of cernunnos deficiency reveals an important role for XLF in the survival of the primitive hematopoietic progenitors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

PRKDC mutations in a SCID patient with profound neurological abnormalities

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Detection and repair of ionizing radiation-induced DNA double strand breaks: new developments in nonhomologous end joining

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Mechanisms of programmed DNA lesions and genomic instability in the immune system.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Evaluation of different biomarkers to predict individual radiosensitivity in an inter-laboratory comparison--lessons for future studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Use of the γ-H2AX assay to monitor DNA damage and repair in translational cancer research

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Irradiation induced foci (IRIF) as a biomarker for radiosensitivity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Chromosomal radiosensitivity and acute radiation side effects after radiotherapy in tumour patients - a follow-up study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Recent developments in the use of γ -H2AX as a quantitative DNA double-strand break biomarker

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A radiation-induced gene expression signature as a tool to predict acute radiotherapy-induced adverse side effects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

γH2AX foci as a measure of DNA damage: A computational approach to automatic analysis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Protection by methylproamine of irradiated human keratinocytes correlates with reduction of DNA damage

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

H2AX phosphorylation screen of cells from radiosensitive cancer patients reveals a novel DNA double-strand break repair cellular phenotype

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

gammaH2AX foci analysis for monitoring DNA double-strand break repair: strengths, limitations and optimization

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Radiosensitive severe combined immunodeficiency disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

γ-H2AX as a biomarker of DNA damage induced by ionizing radiation in human peripheral blood lymphocytes and artificial skin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Telomere length in lymphoblast cell lines derived from clinically radiosensitive cancer patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Severe combined immunodeficiency: a national surveillance study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

GammaH2AX in cancer cells: a potential biomarker for cancer diagnostics, prediction and recurrence

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

The use of EBV-transformed cell lines of breast cancer patients to measure chromosomal radiosensitivity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Senescing human cells and ageing mice accumulate DNA lesions with unrepairable double-strand breaks

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Pathways of DNA double-strand break repair during the mammalian cell cycle

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Histone H2AX in DNA damage and repair.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Neonatal bone marrow transplantation for severe combined immunodeficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A new model describing the curves for repair of both DNA double-strand breaks and chromosome damage

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Statistical analysis of kinetics, distribution and co-localisation of DNA repair foci in irradiated cells: cell cycle effect and implications for prediction of radiosensitivity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Epstein-Barr virus-independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

γ-H2AX detection in peripheral blood lymphocytes, splenocytes, bone marrow, xenografts, and skin

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Individual differences in chromosomal aberrations after in vitro irradiation of cells from healthy individuals, cancer and cancer susceptibility syndrome patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Chromosomal radiosensitivity in two cell lineages derived from clinically radiosensitive cancer patients

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Omenn syndrome due to ARTEMIS mutations

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4597279

Intrinsic radiosensitivity of normal human fibroblasts and lymphocytes after high- and low-dose-rate irradiation

26 November 2018

1 reference

12 December 2020

Damaging-agent sensitivity of Artemis-deficient cell lines

1 reference

12 December 2020

Enhanced intrinsic radiosensitivity after treatment with stereotactic radiosurgery for an acoustic neuroma

1 reference

12 December 2020

An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity

1 reference

12 December 2020

Breakpoint locations within chromosomes 1, 2, and 4 of patients with increased radiosensitivity

1 reference

12 December 2020

Delayed kinetics of DNA double-strand break processing in normal and pathological aging

1 reference

12 December 2020

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

1 reference

12 December 2020

Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

1 reference

12 December 2020

10.1016/J.JMOLDX.2015.05.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PubMed publication ID

26151233

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26151233%20AND%20SRC:MED&resulttype=core&format=json